Gene Symbol: COMMD1
Description: copper metabolism domain containing 1
Alias: MURR1, COMM domain-containing protein 1, copper metabolism (Murr1) domain containing 1, protein Murr1
Klomp A, van De Sluis B, Klomp L, Wijmenga C. The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis. J Hepatol. 2003;39:703-9 pubmed
..We propose that MURR1, the gene defective in canine CT, has a role in the regulation of copper excretion into bile during copper ..
van De Sluis B, Rothuizen J, Pearson P, van Oost B, Wijmenga C. Identification of a new copper metabolism gene by positional cloning in a purebred dog population. Hum Mol Genet. 2002;11:165-73 pubmed
..While screening genes and expressed sequence tags in this region for mutations we found that exon 2 of the MURR1 gene is deleted in both alleles of all affected Bedlington terriers and in single alleles in obligate carriers...
van de Sluis B, Breen M, Nanji M, van Wolferen M, de Jong P, Binns M, et al
. Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. Hum Mol Genet. 1999;8:501-7 pubmed
..2-22.5. A transcribed sequence identified from the C04107-containing BAC was found to be homologous to a gene expressed from human chromosome 2p13-p16, a region devoid of any positional candidate genes. ..
Favier R, Spee B, Fieten H, van den Ingh T, Schotanus B, Brinkhof B, et al
. Aberrant expression of copper associated genes after copper accumulation in COMMD1-deficient dogs. J Trace Elem Med Biol. 2015;29:347-53 pubmed publisher
b>COMMD1-deficient dogs progressively develop copper-induced chronic hepatitis. Since high copper leads to oxidative damage, we measured copper metabolism and oxidative stress related gene products during development of the disease...
Haywood S, Boursnell M, Loughran M, Trafford J, Isherwood D, Liu X, et al
. Copper toxicosis in non-COMMD1 Bedlington terriers is associated with metal transport gene ABCA12. J Trace Elem Med Biol. 2016;35:83-9 pubmed publisher
..Although CT has been associated with a defect in the COMMD1 gene (COMMD1 (del/del)), Bedlington terriers with CT and lacking this mutation are also recognised (non-COMMD1 (..
Lee S, Fillipich L, Hyun C. Prevalence of the exon 2 deletion of the COMMD1 gene in Australian Bedlington terriers. J Genet. 2007;86:289-91 pubmed
Favier R, Spee B, Schotanus B, van den Ingh T, Fieten H, Brinkhof B, et al
. COMMD1-deficient dogs accumulate copper in hepatocytes and provide a good model for chronic hepatitis and fibrosis. PLoS ONE. 2012;7:e42158 pubmed publisher
..b>COMMD1-deficiency in dogs leads to hepatic copper accumulation and chronic hepatitis representing a Wilson's disease like ..
Bartuzi P, Billadeau D, Favier R, Rong S, Dekker D, Fedoseienko A, et al
. CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. Nat Commun. 2016;7:10961 pubmed publisher
..patients with X-linked intellectual disability caused by mutations in CCDC22 are hypercholesterolaemic, and that COMMD1-deficient dogs and liver-specific Commd1 knockout mice have elevated plasma LDL cholesterol levels...
Kim Y, Kim S, Kim J, Lee K, Yun Y. Prevalence and Clinical Relevance of Exon 2 Deletion of COMMD1 in Bedlington Terriers in Korea. J Vet Intern Med. 2016;30:1846-1850 pubmed publisher
Deletion of exon 2 of copper metabolism domain containing 1 (COMMD1) results in copper toxicosis in Bedlington terriers (CT-BT)...